OMOP Concept 4273764
Infantile malignant osteopetrosis
StandardConditionSNOMED367489004Disorder
Maps from
5
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
5 source codes normalize to Infantile malignant osteopetrosis via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 137540 | Infantile Malignant Osteopetrosis | Non-standard |
| OXMIS | 7566AL | ALBERS- SCHONBERG DISEASE | Non-standard |
| OXMIS | 7566MB | MARBLE-BONE DISEASE | Non-standard |
| Read | PG52100 | Osteopetrosis - congenita type | Non-standard |
| Read | PG52.11 | Albers - Schonberg syndrome | Non-standard |
Synonyms
Alternative names recorded for Infantile malignant osteopetrosis across source vocabularies.
- Autosomal recessive lethal osteopetrosis
- Autosomal recessive malignant osteopetrosis
- Congenital osteopetrosis
- enfermedad de Albers-Schönberg
- Infantile malignant osteopetrosis (disorder)
- Marble bone disease
- osteopetrosis autosómica recesiva letal
- osteopetrosis maligna infantil
- osteopetrosis maligna infantil (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(26)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Osteopetrosis
- 2Autosomal hereditary disorder
- 2Chronic disease of musculoskeletal system
- 2Congenital anomaly of skeletal bone
- 2Developmental hereditary disorder
- 2Hereditary disorder of musculoskeletal system
- 3Chronic disease
- 3Congenital anomaly of musculoskeletal system
- 3Developmental disorder
- 3Disorder of bone development
- 3Disorder of musculoskeletal system
- 3Hereditary disease
- 3Hereditary disorder by system
- 4Congenital malformation
- 4Disease
- 4Disorder of body system
- 4Disorder of bone
- 4Genetic disease
- 4Musculoskeletal finding
- 4Structural abnormality of skeleton
- 5Bone finding
- 5Clinical finding
- 5Congenital disease
- 5Disorder of skeletal system
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